Is AXL p.Ala151= (c.453C>T) pathogenic?

AXL p.Ala151= (c.453C>T) is classified Likely benign in AXL (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-07-16). Ultra-rare (popmax 0.0423%, eas); Associated with AXL-related disorder.

What condition is associated with AXL p.Ala151= (c.453C>T)?

AXL p.Ala151= (c.453C>T) is associated with AXL-related disorder (ClinVar).

How common is AXL p.Ala151= (c.453C>T) in the general population?

AXL p.Ala151= (c.453C>T) is ultra-rare (popmax 0.0423%, eas) (gnomAD).

AXL p.Ala151=

c.453C>T · rs767629887 · VCV3043105

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0423%, eas)

Conditions

AXL-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -20	GERP -3.1
Overall
CADD	1.463	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0423% East Asian · 19/44,866 alleles

Filtering AF 0.0277% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.023%

Overall 0.0196% 317/1,613,558 alleles · ultra-rare

Ancestry group	Frequency	1 in
East Asiangrpmax	0.0423%	2,361
European (non-Finnish)	0.0227%	4,403
South Asian	0.0187%	5,354
Remaining individualsnot grpmax-eligible	0.0144%	6,938
Admixed American	0.00334%	29,970
African / African-American	0.00267%	37,424

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: AXL
Protein: p.Ala151=
Coding: c.453C>T
MANE Select: NM_021913
dbSNP: rs767629887
Type: single nucleotide variant
Location: chr19:41221923 (GRCh38)
Gene constraint: LOEUF 0.625 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 75.57 · 4 PDB
Residue 151: the ig-like c2-type 2 domain

Full AXL gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

AXL-related disorder

Similar variants

AXL p.Ala151Val Uncertain significance ★ ⚠ same residue
AXL p.Arg217His Uncertain significance ★★ ⚠ same condition
AXL p.Arg475Gln Uncertain significance ⚠ same condition
AXL c.410-7C>T Likely benign same condition
AXL p.Leu264= Likely benign same condition
AXL p.Leu364= Likely benign same condition
AXL p.Pro12= Likely benign same condition
AXL p.Gly736_Val737insTer Uncertain significance ★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/axl-p-ala151 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown